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. 2019 Dec 26;6(1):e382.
doi: 10.1212/NXG.0000000000000382. eCollection 2020 Feb.

Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man

Olusegun John Oluwole  1 , Heba Ibrahim  1 , Debora Garozzo  1 , Karim Ben Hamouda  1 , Saly Ismail Mostafa Hassan  1 , Ahmed Metwaly Hegazy  1 , Abdul Karim Msaddi  1
Affiliations

Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man

Olusegun John Oluwole et al. Neurol Genet. .

Abstract

Objective: To describe the case of an African patient who was diagnosed with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).

Methods: Case report and literature review.

Results: We present a 39-year-old Gabonese man who developed progressive gait difficulty at the age of 32, followed by insidious tetraparesis, urinary sphincter disturbance, spastic dysarthria, cognitive dysfunction, and seizures. Brain imaging was performed many years after disease onset and revealed diffuse confluent white matter lesions and lacunar infarcts. He tested negative for acquired white matter disease, but genetic screening detected a genetic variant of HTRA1 gene (G283R), which has not been previously reported.

Conclusions: CARASIL is a disease that usually affects Asian patients. This case report describes a unique case of an African patient diagnosed with CARASIL and a novel genetic mutation in HTRA1 that has not been previously described in the literature.

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Figures

Figure 1
Figure 1. Patient's dorsal spine MRI showing cord findings and previous intervention
(A) Sagittal T2WI of the dorsal spine showing the site of the previous surgery (curved arrow) and intramedullary syrinx of the upper thoracic cord (arrows). (B) Sagittal and (C and D) axial T2WI of the thoracic spine showing cord affection by intramedullary patch of hyper intensity (arrows).
Figure 2
Figure 2. Patient's brain MRI showing hemispheric and brainstem findings
Pattern of periventricular white matter involvement in different pulse sequences in axial FLAIR (A and B), note lacunar infarcts (arrow head) is seen in B. (C) Coronal T2WI and (D) Axial T2WI showing affection of the right aspect of pons (arrows) creeping to the middle cerebral peduncle. FLAIR = fluid-attenuated inversion recovery.
See this image and copyright information in PMC

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